LDH info

Canonical Allele Identifier: CA16041388
Gene: ATM HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371408
ClinVar RCV Id: RCV000412308
dbSNP Id: rs1057517248

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108256215del , CM000673.2:g.108256215del GRCh38
NC_000011.9:g.108126942del , CM000673.1:g.108126942del GRCh37
NC_000011.8:g.107632152del NCBI36
NG_009830.1:g.38384del , LRG_135:g.38384del

Transcript Alleles

HGVS Amino-acid change
NM_000051.3:c.2125del , LRG_135t1:c.2125del NP_000042.3:p.Ile709LeufsTer26
XM_005271561.3:c.2125del XP_005271618.2:p.Ile709LeufsTer26
XM_005271562.3:c.2125del XP_005271619.2:p.Ile709LeufsTer26
XM_006718843.2:c.2125del XP_006718906.1:p.Ile709LeufsTer26
XM_011542840.1:c.2125del XP_011541142.1:p.Ile709LeufsTer26
XM_011542841.1:c.2125del XP_011541143.1:p.Ile709LeufsTer26
XM_011542842.1:c.1960del XP_011541144.1:p.Ile654LeufsTer26
XM_011542843.1:c.2125del XP_011541145.1:p.Ile709LeufsTer26
XM_011542844.1:c.1081del XP_011541146.1:p.Ile361LeufsTer26
XM_011542845.1:c.817del XP_011541147.1:p.Ile273LeufsTer26
XM_011542846.1:c.2125del XP_011541148.1:p.Ile709LeufsTer26
NM_001351834.1:c.2125del VV NP_001338763.1:p.Ile709LeufsTer26
XM_005271562.5:c.2125del XP_005271619.2:p.Ile709LeufsTer26
XM_006718843.4:c.2125del XP_006718906.1:p.Ile709LeufsTer26
XM_011542840.3:c.2125del XP_011541142.1:p.Ile709LeufsTer26
XM_011542842.3:c.1960del XP_011541144.1:p.Ile654LeufsTer26
XM_011542843.2:c.2125del XP_011541145.1:p.Ile709LeufsTer26
XM_011542844.3:c.1081del XP_011541146.1:p.Ile361LeufsTer26
XM_011542845.2:c.817del XP_011541147.1:p.Ile273LeufsTer26
XM_017017789.2:c.2125del XP_016873278.1:p.Ile709LeufsTer26
XM_017017790.2:c.2125del XP_016873279.1:p.Ile709LeufsTer26
XM_017017791.1:c.2125del XP_016873280.1:p.Ile709LeufsTer26
XM_017017792.2:c.2125del XP_016873281.1:p.Ile709LeufsTer26
XR_002957150.1:n.2858del
NM_001351834.2:c.2125del VV NP_001338763.1:p.Ile709LeufsTer26
ENST00000278616.8:c.2125del ENSP00000278616.4:p.Ile709LeufsTer26
ENST00000452508.6:c.2125del ENSP00000388058.2:p.Ile709LeufsTer26
ENST00000527805.5:c.2125del ENSP00000435747.1:p.Ile709LeufsTer26